Telethon Foundation Receives Positive CHMP Opinion for Waskyra Gene Therapy to Combat Wiskott-Aldrich Syndrome

Introduction

The Fondazione Telethon has recently made a groundbreaking announcement concerning Waskyra™, a gene therapy aimed at treating Wiskott-Aldrich Syndrome (WAS). This news comes after the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) provided a positive opinion regarding Waskyra™ for market authorization within the European Union. This milestone is significant in the fight against rare diseases and highlights the progress made in the realm of genetic therapies.

Background on Wiskott-Aldrich Syndrome

Wiskott-Aldrich Syndrome is a rare genetic disorder that primarily affects males and is characterized by a triad of symptoms: immunodeficiency, eczema, and thrombocytopenia (low platelet count). The condition is caused by mutations in the WAS gene, which hampers the immune system and increases the risk of infections. Patients often experience recurrent infections, excessive bleeding due to low platelet counts, and other serious complications. The incidence of WAS is estimated to be about 1 in 250,000 live male births, making it a rare but critical condition that needs effective treatment options.

The Development Journey of Waskyra™

Waskyra™ has been developed over decades of intense research conducted at the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) located in Milan. What sets this therapy apart is its ex vivo gene therapy approach, which involves modifying a patient’s own hematopoietic stem and progenitor cells to correct the genetic defect. After the cells are modified, they are reintroduced into the patient’s body following a preparatory course of chemotherapy to ensure that the bone marrow can accept these cells.

Ilaria Villa, the General Director of Fondazione Telethon, remarked on this achievement by emphasizing how academic research, when aligned with a strong commitment to patient needs and conducted to industry standards, can significantly alter the course of rare diseases. This validation underscores the importance of bridging research and care, paving the way for advanced treatment options that are both safe and effective.

Efficacy and Safety of Waskyra™

Clinical trials have illustrated that Waskyra™ reduces the occurrence of severe and moderate bleeding events, as well as serious infections among patients suffering from WAS. This is particularly impactful for patients where finding a compatible stem cell donor is challenging—a common scenario in WAS treatment. The therapy, therefore, represents a much-needed therapeutic option that could enhance the quality of life for many affected individuals.

Dr. Alessandro Aiuti, the Deputy Director of Clinical Research at SR-Tiget, emphasized the importance of making therapies available to provide families with a genuine opportunity for treatment. The essence of science, as pointed out by Dr. Aiuti, lies in its effects on people's lives, and Waskyra™ aims to fulfill this role effectively for WAS patients.

Future Prospects: Collaboration with Regulatory Bodies

The approval process for Waskyra™ is not limited to Europe. The Biologics License Application (BLA) for the same gene therapy is currently under review by the U.S. Food and Drug Administration (FDA). The Fondazione Telethon is dedicated to working alongside regulatory authorities to ensure that eligible patients have access to this promising therapy.

The Role of Fondazione Telethon

Founded over 35 years ago, the Fondazione Telethon is an Italian nonprofit organization dedicated to advancing research on rare and complex genetic diseases. Its commitment to fostering impactful scientific work continues to drive the development of innovative treatments aimed at improving the lives of individuals living with these challenges.

In conclusion, the approval of Waskyra™, as advocated by the Telethon Foundation, not only bridges research and clinical practice but also offers renewed hope to families grappling with the implications of Wiskott-Aldrich Syndrome. Future collaboration and regulatory support will be essential in making this and similar therapies accessible to patients worldwide.